Canonical Allele Identifier: PA2828298203
Gene: PAX6 HGNC NCBI

Linked Data

ClinVar Variation Id: 1385887
ClinVar RCV Id: RCV001871471 RCV002478248
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001355839.1:p.Pro253_Gln255del
CA5933863
NM_001368910.2:c.757_765del